Canonical Allele Identifier: CA456894453

Gene: TFR2

Linked Data

• dbSNP Id: rs769477274
• gnomAD v2: 7-100225227-G-A
• gnomAD v4: 7-100627604-G-A
• COSMIC: COSM3630847
• MyVariant Identifiers: chr7:g.100225227G>A (hg19) ; chr7:g.100627604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100627604G>A , CM000669.2:g.100627604G>A	GRCh38
NC_000007.13:g.100225227G>A , CM000669.1:g.100225227G>A	GRCh37
NC_000007.12:g.100063163G>A	NCBI36
NG_007989.1:g.18947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223051.8:c.1740C>T MANE Select	ENSP00000223051.3:p.Val580=
ENST00000223051.7:c.1740C>T	ENSP00000223051.3:p.Val580=
ENST00000431692.5:c.*415C>T	ENSP00000413905.1:n.*415C>T
ENST00000461176.1:n.1C>T
ENST00000462090.5:n.691C>T
ENST00000462107.1:c.1740C>T	ENSP00000420525.1:p.Val580=
ENST00000465294.5:n.1575C>T
ENST00000473374.5:n.813C>T
ENST00000473963.1:n.769C>T
ENST00000476304.5:n.1361C>T
ENST00000490084.5:c.1093C>T
NM_001206855.1:c.1227C>T	NP_001193784.1:p.Val409=
NM_003227.3:c.1740C>T	NP_003218.2:p.Val580=
XM_005250553.3:c.1740C>T	XP_005250610.1:p.Val580=
XM_005250554.3:c.1740C>T	XP_005250611.1:p.Val580=
XR_927814.1:n.434-3552G>A
NM_001206855.2:c.1227C>T	NP_001193784.1:p.Val409=
XM_005250553.4:c.1740C>T	XP_005250610.1:p.Val580=
XM_017012573.1:c.1740C>T	XP_016868062.1:p.Val580=
NM_003227.4:c.1740C>T MANE Select	NP_003218.2:p.Val580=
NM_001206855.3:c.1227C>T	NP_001193784.1:p.Val409=